Varaico: Literature-Extracted Genetic Variants

ARNT

366 papers

RefSeq Summary

This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor a...

Pfam Domains

HLHaa 90–143UCSCHelix-loop-helix DNA-binding domain

PASaa 163–270UCSCPAS fold

PAS_11aa 360–469UCSCPAS domain

Gene Aliases

HGNC Name

aryl hydrocarbon receptor nuclear translocator

HGNC Alias Symbols

HIF-1beta; ARNT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001668.4

p.V179V

c.537C>G

Surrounding Variants

1 paper

NM_001668.4

p.T183insFs

c.547_548ins4

1 paper

NM_001668.4

p.T183T

c.549A>G

1 paper

NM_001668.4

p.G184S

c.550G>A

1 paper

NM_001668.4

p.R185W

c.553A>T

1 paper

NM_001668.4

p.R185M

c.554G>T

1 paper

NM_001668.4

p.V187V

c.561G>C

1 paper

NM_001668.4

p.Y188insFs

c.563_564insT

1 paper

NM_001668.4

p.Y188insFs

c.563_564ins5

1 paper

NM_001668.4

p.Y188insFs

c.563_564insTG

1 paper

NM_001668.4

p.Y188ins2

c.563_564ins6

1 paper

NM_001668.4

p.Y188insFs

c.563_564ins8

1 paper

NM_001668.4

p.V189ins2

c.565_566ins6